American geneticist (born 1978)
Bruno Reversade (born 1978) is an American
human geneticist and
developmental biologist . He is a Director of the Institute of Molecular and Cellular Biology and the
Genome Institute of Singapore at
A*STAR (
Singapore ) and holds several faculty positions at other universities. Reversade is known for identifying mutated genes that cause Mendelian diseases, for his research on the genetics of identical twins and for the characterizations of novel hormones.
[2]
[3]
[4]
Early life and education
Bruno Reversade was born in 1974 into a French-American family. He was raised in
Grenoble (
France ) and
Washington, D.C. (
US ). Bruno Reversade studied at the
University Joseph Fourier ,
Pierre and Marie Curie University and
UCLA .
Scientific career
Reversade became interested in
developmental biology in 1997 when studying at the
University of Western Ontario (
Canada ) under the tutelage of Greg Kelly.
[5]
[6]
He earned his master's degree at the
Pasteur Institute (
Paris ,
France ), where he studied head development in the mouse embryo.
[5]
[7] He then moved to the United States to work at the
HHMI laboratory of
Edward M. De Robertis at the
University of California, Los Angeles . There he studied the specification of the
dorsal-ventral axis during vertebrate development using
Xenopus embryos.
[8] In 2005, Reversade and De Robertis detailed how multiple extracellular proteins allow embryos that are cut in two to self-regulate consistently.
[9]
[10]
[11]
In 2006, Reversade earned his PhD from the
Pierre and Marie Curie University .
[12] In 2008, he received the
A*STAR investigatorship (
Singapore ) award and set up his team in 2008 at the
Institute of Medical Biology to carry out human embryology and genetic research.
[12]
[1]
[13] In 2015, he became a Director at A*STAR.
[14] Also in 2015, he received AAA Fellowship from the
Vrije Universiteit Amsterdam and was appointed Professor of Human Genetics at the Centre for Reproductive Medicine at the university's Academic Medical Center.
[15] Since 2016, Reversade is a Distinguished Professor of Human Genetics at
Koç University (
Turkey ).
[16] In 2023, Reversade became a Smart-Health Initiative Director and Professor at
KAUST in the Kingdom of Saudi Arabia.
Research areas
Mendelian genetics
Reversade's team works on the genetic characterization and clinical description of inherited conditions in humans.
[17]
[18]
They have identified mutations responsible for
progeroid syndromes in humans,
[19]
[20]
[21]
NLRP1
inflammasome -related diseases,
[22]
[23]
[24] self-healing cancers
[25]
[22] and numerous diseases causing birth defects
[26]
[27]
[28]
Reversade's group has identified the following genes to be responsible for novel
Mendelian diseases :
Developmental biology and Twinning
Reversade's investigations in
developmental biology have relied on various animal
model organisms (
C. elegans ,
Drosophila ,
zebrafish ,
Xenopus and
transgenic mice ) and
covered such embryonic processes as
neural induction ,
[8]
limb development ,
[30]
[28]
[47] and various human diseases causing
birth defects .
[42]
[50]
[52]
In 2005, during his Ph.D. thesis in the laboratory of Edward De Robertis, the scientists published two discoveries,
[9]
[61] pertaining to the self-regulation of an embryonic
morphogenetic field mediated by the extracellular
Chordin /
BMP /Sizzled pathway.
[10] This helped provide a molecular framework for how embryos split in two halves can develop into perfect, albeit smaller, identical twinned embryos.
[62]
Reversade also researches the genetics of
dizygotic and
monozygotic twinning in humans.
[63]
[5]
[4] He has been searching for genes responsible for monozygotic (MZ) twinning from rare population isolates.
[64]
In 2021, together with the
VU Amsterdam , his group revealed that MZ twins harbor an
epigenetic signature in their
somatic tissue even decades after their birth.
[65] This stable DNA mark could be employed to retrospectively assess if a person is a MZ twin even if his/her co-
twin vanished in utero.
[66]
Hormones and Micropeptides
Reversade's research has also pioneered the annotation of novel
micropeptides .
[67]
ELABELA In 2013, he discovered and patented a novel
hormone named
Elabela (ELA).
[67]
[68] This secreted circulating peptide works as an endogenous
ligand for the
Apelin receptor (a
G protein-coupled receptor ).
[69]
[70] The genetic inactivation of ELA leads to
cardiovascular defects,
[71]
[72] predisposes to
preeclampsia
[73]
[74]
[75] and is needed for the self-renewal of human
embryonic stem cells .
[76] Analogues of Elabela have entered clinical trials by
Amgen .
[77]
BRAWNIN In 2020, he participated in the characterization of
C12orf73 , a protein-coding gene responsible for the making of a 71 amino-acid peptide called BRAWNIN. This small peptide is essential for respiratory chain
complex III (CIII) assembly in human cells and zebrafish.
[78]
C2orf69 In 2021, together with I. Kurth and colleagues,
[51]
[27] his team identified a fatal syndrome caused by the homozygous inactivation of C2orf69. This gene codes for a 385 amino-acid peptide which can be secreted or associated with mitochondria. C2ORF69 possesses homology to esterase/lipase enzymes.
[51]
Awards and recognition
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